December 2023 in “Communications biology” Targeting the HEDGEHOG-GLI1 pathway could help treat keloids.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
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June 1990 in “Journal of Investigative Dermatology” July 2023 in “Media Dermato Venereologica Indonesiana” Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
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August 2007 in “Journal of Surgical Research” Mice genetically modified to produce more Del1 protein had faster hair regrowth.
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March 2015 in “Neuromuscular Disorders” People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.
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March 2019 in “Case Reports” A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
January 2004 in “Kölner Universitäts PublikationsServer (Universität zu Köln)” Collagen XVII and CD151 affect cell movement, with CD151 inhibiting migration when bound to integrins.
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March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
March 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
Whiskers can form without sensory nerves or Foxd1, thanks to Meis2 in mesenchymal cells.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
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January 1984 in “Molecular and Cellular Biochemistry”
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June 2021 in “Developmental biology” Dermal EZH2 controls skin cell development and hair growth in mice.
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January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
April 2024 in “African Journal of Biological Sciences” The patient with lupus and Degos' disease showed significant improvement with treatment.
Meis2 is essential for whisker development, independent of nerve involvement.
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February 1992 in “Journal of Cutaneous Pathology” Antibodies help identify glycoproteins in normal skin and tumor cells.
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November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
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December 2021 in “Frontiers in cell and developmental biology” Glypican-1 is important for blood vessel growth in hair follicles and could help treat hair loss.
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
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June 2003 in “The EMBO Journal” Phospholipase Cδ1 is crucial for normal skin and hair development.
April 2010 in “Cancer Research” Mcl-1 can activate Wnt signaling in skin cells, promoting growth and possibly cancer.
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October 2021 in “Journal of Investigative Dermatology” 32 citations
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January 2016 in “Development” Sebaceous lipids are crucial for keeping skin and eyes healthy in mice.
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November 2007 in “Journal of Histochemistry & Cytochemistry” NG2 is crucial for normal skin and hair development in mice.
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January 2015 in “The Journal of Dermatology” Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.